Canonical Allele Identifier: CA7241881

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874941G>A , CM000676.2:g.68874941G>A	GRCh38
NC_000014.8:g.69341658G>A , CM000676.1:g.69341658G>A	GRCh37
NC_000014.7:g.68411411G>A	NCBI36
NG_029480.1:g.109426C>T , LRG_886:g.109426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2095C>T
ENST00000682130.1:n.3904C>T
ENST00000682291.1:c.2660C>T	ENSP00000507093.1:p.Pro887Leu
ENST00000682298.1:n.4253C>T
ENST00000682331.1:c.2399C>T	ENSP00000508329.1:p.Pro800Leu
ENST00000682378.1:n.4633C>T
ENST00000682381.1:n.4168C>T
ENST00000682522.1:n.2552C>T
ENST00000682559.1:c.*2116C>T	ENSP00000507271.1:n.*2116C>T
ENST00000683069.1:n.3999C>T
ENST00000683198.1:c.2687C>T	ENSP00000507889.1:p.Pro896Leu
ENST00000683225.1:c.2387C>T	ENSP00000506977.1:p.Pro796Leu
ENST00000683267.1:c.*1875C>T	ENSP00000508356.1:n.*1875C>T
ENST00000683780.1:n.3509C>T
ENST00000684146.1:n.3416C>T
ENST00000684182.1:c.2402C>T	ENSP00000508177.1:p.Pro801Leu
ENST00000684287.1:n.1929C>T
ENST00000684340.1:n.4087C>T
ENST00000684598.1:c.2579C>T	ENSP00000507785.1:p.Pro860Leu
ENST00000684638.1:c.*1941C>T	ENSP00000507609.1:n.*1941C>T
ENST00000684639.1:c.2543C>T	ENSP00000507653.1:p.Pro848Leu
ENST00000684713.1:c.2570C>T	ENSP00000507155.1:p.Pro857Leu
ENST00000394419.9:c.2663C>T MANE Select	ENSP00000377941.4:p.Pro888Leu
ENST00000679147.1:c.2606C>T	ENSP00000504355.1:p.Pro869Leu
ENST00000193403.10:c.2597C>T	ENSP00000193403.6:p.Pro866Leu
ENST00000376839.7:c.2387C>T	ENSP00000366035.3:p.Pro796Leu
ENST00000394419.8:c.2663C>T	ENSP00000377941.4:p.Pro888Leu
ENST00000438964.6:c.2582C>T	ENSP00000414272.2:p.Pro861Leu
ENST00000538545.6:c.2711C>T	ENSP00000439828.2:p.Pro904Leu
ENST00000553882.1:n.2018C>T
ENST00000555075.5:c.673C>T
ENST00000556083.1:n.4051C>T
NM_001102.3:c.2597C>T	NP_001093.1:p.Pro866Leu
NM_001130004.1:c.2663C>T , LRG_886t1:c.2663C>T	NP_001123476.1:p.Pro888Leu
NM_001130005.1:c.2582C>T	NP_001123477.1:p.Pro861Leu
XM_011537265.1:c.2708C>T	XP_011535567.1:p.Pro903Leu
XM_011537266.1:c.2693C>T	XP_011535568.1:p.Pro898Leu
XM_011537267.1:c.2684C>T	XP_011535569.1:p.Pro895Leu
XM_011537268.1:c.2669C>T	XP_011535570.1:p.Pro890Leu
XM_011537269.1:c.2621C>T	XP_011535571.1:p.Pro874Leu
XM_011537270.1:c.2558C>T	XP_011535572.1:p.Pro853Leu
XM_011537271.1:c.2534C>T	XP_011535573.1:p.Pro845Leu
XM_011537265.2:c.2708C>T	XP_011535567.1:p.Pro903Leu
XM_011537266.3:c.2693C>T	XP_011535568.1:p.Pro898Leu
XM_011537267.3:c.2684C>T	XP_011535569.1:p.Pro895Leu
XM_011537268.3:c.2669C>T	XP_011535570.1:p.Pro890Leu
XM_017021720.1:c.3239C>T	XP_016877209.1:p.Pro1080Leu
XM_017021721.2:c.3215C>T	XP_016877210.1:p.Pro1072Leu
XM_017021722.2:c.3152C>T	XP_016877211.1:p.Pro1051Leu
XM_017021723.2:c.3128C>T	XP_016877212.1:p.Pro1043Leu
XM_017021725.1:c.3089C>T	XP_016877214.1:p.Pro1030Leu
XM_017021726.2:c.3065C>T	XP_016877215.1:p.Pro1022Leu
XM_017021727.2:c.2606C>T	XP_016877216.1:p.Pro869Leu
XM_017021728.2:c.2519C>T	XP_016877217.1:p.Pro840Leu
NM_001102.4:c.2597C>T	NP_001093.1:p.Pro866Leu
NM_001130005.2:c.2582C>T	NP_001123477.1:p.Pro861Leu
NM_001130004.2:c.2663C>T MANE Select	NP_001123476.1:p.Pro888Leu